DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Blepharoptosis ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	84617
Gene Symbol:	TUBB6

TUBB6

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.110

GeneticVariation

BEFREE

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.

2017

Entrez Id:	84617
Gene Symbol:	TUBB6

TUBB6

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.110

Biomarker

HPO